Variant report

Variant	esv2754002
Chromosome Location	chr4:10267078-10274994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:10267329-10267510	HepG2	liver:	n/a	chr4:10267446-10267457
2	CEBPB	chr4:10267288-10267523	A549	lung:	n/a	chr4:10267446-10267457
3	CTCF	chr4:10273284-10273382	K562	blood:	n/a	n/a
4	CTCF	chr4:10273213-10273430	K562	blood:	n/a	n/a
5	CTCF	chr4:10267520-10267670	NHEK	skin:	n/a	chr4:10267591-10267599
6	E2F4	chr4:10274558-10275032	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr4:10273012-10273166	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr4:10274596-10275143	MCF10A-Er-Src	breast:	n/a	chr4:10274960-10274970 chr4:10274961-10274969 chr4:10274960-10274970
9	FOS	chr4:10268815-10268981	MCF10A-Er-Src	breast:	n/a	chr4:10268877-10268887 chr4:10268876-10268888 chr4:10268878-10268886 chr4:10268878-10268885 chr4:10268877-10268886
10	FOS	chr4:10268776-10268932	MCF10A-Er-Src	breast:	n/a	chr4:10268877-10268887 chr4:10268876-10268888 chr4:10268878-10268886 chr4:10268878-10268885 chr4:10268877-10268886
11	FOS	chr4:10274631-10275073	MCF10A-Er-Src	breast:	n/a	chr4:10274960-10274970 chr4:10274961-10274969 chr4:10274960-10274970
12	FOS	chr4:10268727-10268914	MCF10A-Er-Src	breast:	n/a	chr4:10268877-10268887 chr4:10268876-10268888 chr4:10268878-10268886 chr4:10268878-10268885 chr4:10268877-10268886
13	FOS	chr4:10274606-10275143	MCF10A-Er-Src	breast:	n/a	chr4:10274960-10274970 chr4:10274961-10274969 chr4:10274960-10274970
14	FOS	chr4:10274597-10275143	MCF10A-Er-Src	breast:	n/a	chr4:10274960-10274970 chr4:10274961-10274969 chr4:10274960-10274970
15	MYC	chr4:10274631-10275351	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr4:10274623-10275000	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr4:10274942-10274959	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr4:10274619-10274936	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr4:10274622-10275053	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr4:10274649-10274998	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr4:10274655-10274855	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10255171..10260191-chr4:10262748..10268904,8	K562	blood:
2	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:
3	chr4:10271663..10274322-chr4:10278537..10280895,2	K562	blood:
4	chr4:10271663..10276718-chr4:10277557..10282432,8	K562	blood:
5	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
6	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
7	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
8	chr4:10274788..10276860-chr4:10285063..10286717,2	K562	blood:
9	chr4:10257186..10261463-chr4:10263373..10268480,7	K562	blood:
10	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-11	chr4:10269519-10269855	NONHSAT095492

Variant related genes	Relation type
ENSG00000250074	TF binding region
ENSG00000250040	chromatin interactions

Extended variants
information (count: 592 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:592 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7670692	chr4:10267078-10267079	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs202067792	chr4:10267106-10267107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368231173	chr4:10267107-10267108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35744139	chr4:10267108-10267109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs57149119	chr4:10267109-10267110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572531838	chr4:10267114-10267115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149202855	chr4:10267145-10267146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576158765	chr4:10267158-10267159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543459021	chr4:10267159-10267160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564847076	chr4:10267253-10267254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533608123	chr4:10267271-10267272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551794575	chr4:10267283-10267284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369647795	chr4:10267287-10267288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532478333	chr4:10267288-10267289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540954021	chr4:10267292-10267293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559542751	chr4:10267296-10267297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77039026	chr4:10267301-10267302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530791457	chr4:10267315-10267316	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189028444	chr4:10267332-10267333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550201870	chr4:10267351-10267352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567433298	chr4:10267353-10267354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192975928	chr4:10267376-10267377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114584684	chr4:10267397-10267398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571284167	chr4:10267401-10267402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367855732	chr4:10267409-10267410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs80113437	chr4:10267438-10267439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146893411	chr4:10267453-10267454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184268848	chr4:10267491-10267492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs555159262	chr4:10267492-10267493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576227149	chr4:10267493-10267494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371765376	chr4:10267523-10267524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567157952	chr4:10267535-10267536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558621894	chr4:10267536-10267537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576755164	chr4:10267585-10267586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541364279	chr4:10267593-10267594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559394526	chr4:10267608-10267609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs115995420	chr4:10267643-10267644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541671377	chr4:10267645-10267646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369694411	chr4:10267654-10267655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563111854	chr4:10267656-10267657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531718232	chr4:10267688-10267689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549845633	chr4:10267694-10267695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142969311	chr4:10267702-10267703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532398376	chr4:10267708-10267709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372320431	chr4:10267709-10267710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11728574	chr4:10267730-10267731	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368880722	chr4:10267748-10267749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147453146	chr4:10267775-10267776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs118082282	chr4:10267799-10267800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570249683	chr4:10267801-10267802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10262000-10273800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10263600-10268200	Weak transcription	Gastric	stomach
3	chr4:10265600-10271000	Weak transcription	K562	blood
4	chr4:10267000-10273600	Weak transcription	Fetal Thymus	thymus
5	chr4:10267800-10268200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:10268200-10268800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:10268200-10269400	Enhancers	Gastric	stomach
8	chr4:10268400-10269200	Enhancers	NHEK	skin
9	chr4:10268400-10269400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:10268800-10269000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:10268800-10273600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:10269000-10273800	Weak transcription	HMEC	breast
13	chr4:10269200-10269800	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:10269200-10274600	Weak transcription	NHEK	skin
15	chr4:10269400-10274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:10271000-10271800	Enhancers	K562	blood
17	chr4:10271400-10272200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:10271800-10277600	Weak transcription	K562	blood
19	chr4:10272200-10274000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:10273400-10274600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:10273600-10274400	Enhancers	Thymus	Thymus
22	chr4:10273600-10275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:10273600-10275200	Enhancers	Fetal Thymus	thymus
24	chr4:10273800-10275000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:10273800-10275200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:10273800-10275400	Enhancers	HMEC	breast
27	chr4:10274000-10274400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:10274000-10274400	Enhancers	HSMM	muscle
29	chr4:10274000-10274600	Enhancers	HSMMtube	muscle
30	chr4:10274000-10274800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:10274000-10275200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:10274200-10274800	Enhancers	Osteobl	bone
33	chr4:10274400-10277600	Weak transcription	HSMM	muscle
34	chr4:10274600-10275200	Enhancers	NHEK	skin
35	chr4:10274600-10277200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:10274600-10277200	Weak transcription	HSMMtube	muscle
37	chr4:10274800-10277200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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